Mucopolysaccharidosis, type iiic

Preferred Label : Mucopolysaccharidosis, type iiic;

Symbol : MPS3C;

CISMeF acronym : MPS3C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mps iiic; Sanfilippo syndrome C; Acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency;

Description : Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA. For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (252900).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the heparan-alpha-glucosaminide N-acetyltransferase gene (HGSNAT, 610453.0001);

Laboratory abnormalities : Acetyl CoA:alpha-glucosaminidase N-acetyltransferase deficiency in fibroblasts; Heparan sulfate excretion in urine; Metachromasia of white blood cells and fibroblasts; Enzyme replacement therapy has not been effective;

Prefixed ID : #252930;

Details

Origin ID

252930;

UMLS CUI

C0086649;

Automatic exact mappings (from CISMeF team)
- mucopolysaccharidosis iii [MeSH Descriptor]
Broader ORDO disease(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
Currated CISMeF NLP mapping
- MPS III C [MeSH concept]
- Mucopolysaccharidosis III-C (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIC [NCIt concept]
- Mucopolysaccharidosis type 3C [ICD-11 More detail]
- Sanfilippo syndrome type C [ORDO Disease]
- mucopolysaccharidosis type IIIC [DO Concept]
- mucopolysaccharidosis type IIIc [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-c [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IIIC [DO Concept]
Genes related to phenotype
- Heparan-alpha-glucosaminide n-acetyltransferase [OMIM gene]
HPO term(s)
- Asymmetric septal hypertrophy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cellular metachromasia [HPO term]
- Coarse facial features [HPO term]
- Coarse hair [HPO term]
- Dense calvaria [HPO term]
- Diarrhea [HPO term]
- Dolichocephaly [HPO term]
- Dysostosis multiplex [HPO term]
- Dysphagia [HPO term]
- Everted lower lip vermilion [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Growth abnormality [HPO term]
- Hearing impairment [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hernia [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Joint stiffness [HPO term]
- Kyphoscoliosis [HPO term]
- Loss of speech [HPO term]
- Mild hepatomegaly [HPO term]
- Mild joint stiffness [HPO term]
- Mild splenomegaly [HPO term]
- Mildly coarse facies [HPO term]
- Motor delay [HPO term]
- Motor deterioration [HPO term]
- Ovoid thoracolumbar vertebrae [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Thickened ribs [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo syndrome type C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III C [MeSH concept]
- Mucopolysaccharidosis III-C (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIC [NCIt concept]
- Mucopolysaccharidosis type 3C [ICD-11 More detail]
- Sanfilippo syndrome type C [ORDO Disease]
- mucopolysaccharidosis type IIIC [DO Concept]
- mucopolysaccharidosis type IIIc [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-c [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo Syndrome [NCIt concept]
- mucopolysaccharidosis iii [MeSH Descriptor]

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